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Pediatric Endocrine Disorders

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Pediatric Endocrine Disorders Debbie King FNP-C, PNP-C June 2007 Hypothyroidism Metabolic disorder May be familial or sporadic May progress as permanent or transient ... – PowerPoint PPT presentation

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Title: Pediatric Endocrine Disorders


1
Pediatric Endocrine Disorders
  • Debbie King FNP-C, PNP-C
  • June 2007

2
Hypothyroidism
  • Metabolic disorder
  • May be familial or sporadic
  • May progress as permanent or transient disorder
  • Congenital vs. acquired
  • Congenital- may affect fetus in 1st trimester
  • Juvenile- acquired- usually have onset in
    childhood or adolescence

3
Hypothyroidism
  • Primary vs. secondary
  • Primary- disease or disorder of thyroid gland
  • Secondary- disease or disorder of hypothalamus or
    pituitary gland compromises thyroid gland function

4
Hypothyroidism
  • Etiology/ Incidence
  • Congenital Hypothyroidism
  • Absence, underdevelopment or atrophy of thyroid
    gland most common
  • Inherent dysfunction in transport or assimilation
    of iodine or in synthesis or metabolism of
    thyroid hormone
  • Maternal disease adversely affecting fetal
    thyroid development and function

5
Hypothyroidism
  • Iodine deficiency causing endemic goiter and
    cretinism
  • Hypothalamic or pituitary disorder
  • Affects 1 infant in every 4000 live births
  • Higher incidence in Hispanic and Native-American
    infants
  • Higher incidence in areas with endemic iodine
    deficiency

6
Hypothyroidism
  • Juvenile-acquired Hypothyroidism
  • Chronic lymphocytic thyroiditis
  • Late manifestation of congenital absence
  • Ablation of thyroid through medical procedure
  • Exposure to iodine-containing drugs and agents
  • Disease of hypothalamus or pituitary
  • Endemic goiter from nutritional iodine deficiency

7
Hypothyroidism
  • Signs and symptoms
  • Affects multiple systems
  • May be family history
  • May be associated with other autoimmune disease
    or syndromes
  • Neonates/infants
  • Infants have no obvious signs during first month
  • History of lethargy, poor feeding, elevated
    bilirubin
  • May be post-mature

8
Hypothyroidism
  • Older infants, children, adolescents
  • History of poor growth
  • Developmental delay
  • Differential diagnosis
  • Differentiate primary Hypothyroidism due to
    intrinsic thyroid gland defects from secondary
    thyroid deficiency caused by pituitary or
    hypothalamic disorders

9
Hypothyroidism
  • Differentials cont
  • Congenital thyroxine-binding globulin deficiency
  • Physical Findings
  • Affects multiple systems
  • Neonates/infants
  • Prolonged jaundice
  • Growth deceleration
  • Hypothermia, skin mottling

10
Hypothyroidism
  • Findings in neonates and infants cont
  • Large fontanels
  • Normal, slightly enlarged thyroid gland
  • Hoarse cry
  • Axillary, prominent supraclavicular fat pads
  • Respiratory distress in term infant
  • Bradycardia
  • Distended abdomen
  • Lumbar lordosis

11
Hypothyroidism
  • Findings-Infants, children, and adolescents
  • Increased weight for height
  • Linear growth retardation
  • Developmental delay
  • Delayed puberty
  • Skin cool, pale, gray, thickened
  • Hair dry, brittle
  • Possible enlarged thyroid gland
  • Galactorrhea
  • Myopathy
  • Delayed bone age

12
Hypothyroidism
  • Diagnostic Tests/Findings
  • Newborn screening for congenital Hypothyroidism
    is routine in all 50 states
  • If abnormal- repeat
  • Evaluated serum TSH and low T4 diagnostic of
    congenital hypothyroidism. May also test serum
    thyroxine-binding globulin
  • Positive TSH receptor-blocking antibodies-
    diagnosis for transient congenital
    Hypothyroidism
  • May also test- TBG, T3RU

13
Hypothyroidism
  • Tests/findings cont
  • Acquired Hypothyroidism secondary to pituitary or
    hypothalamic disorder
  • Low TSH, low T4 level, low T3RU
  • Abnormal pituitary function tests
  • Euthroid sick syndrome secondary to acute or
    chronic illness-low T4,normal TBG,low T3,normal
    TSH,free T4 and reverse T3 normal to high

14
Hypothyroidism
  • Tests/findings cont
  • Autoimmune thyroiditis-(Hashimotos) with
    goiter-normal T4 and TSH elevated serum thyroid
    peroxidase or thyroglobulin antibody titers
  • Repeat thyroid function tests if clinical
    suspicion of hypothyroidism, history of disease
    in pregnancy, positive history
  • May have abnormal thyroid scan, ultrasound,
    imaging, or bone age results

15
Hypothyroidism
  • Management/ Treatment
  • Physician consultation or referral to
    endocrinologist
  • Drug of choice daily oral levothyroxine
  • Once older children in euthyroid state- monitor
    their thyroid levels
  • Educate parents and child about disease

16
Hyperthyroidism
  • Excessive production and secretion of thyroid
    hormone-TH
  • Etiology/ Incidence
  • Caused by excess production of thyroid
    hormone-TH
  • Autoimmune response-Graves- most common cause
  • If mother is thyrotoxic prenatally or has history
    of Graves, infants may have transient congenital
    Hyperthyroidism

17
Hyperthyroidism
  • More common in girls than boys
  • Signs and symptoms
  • May have family history
  • Neonates/infants
  • Usually have signs shortly after birth
  • Prematurity, low birth weight, poor weight gain,
    weight loss
  • Fever, flushing

18
Hyperthyroidism
  • Child/ Adolescent
  • Weight loss, increased appetite
  • Nervousness, irritability, decreased attention
    span
  • Sleep restlessness
  • Visual disturbance
  • Palpitations and increased heart rate
  • Trembling
  • Frequent urination and stooling
  • amenorrhea

19
Hyperthyroidism
  • Differential Diagnosis
  • Neonates- systemic illness
  • Children and adolescents
  • Nodular thyroid disease
  • Thyroid cancer
  • Euthyroid goiter
  • Chronic disease
  • Thyroiditis

20
Hyperthyroidism
  • Differentials children and adolescents cont
  • Accidental or deliberate excessive thyroid
    hormone or iodine ingestion
  • Chorea
  • Psychiatric illness
  • Physical Findings
  • Neonates and infants
  • May be small for gestation age
  • Lid retraction
  • Face may be flush

21
Hyperthyroidism
  • Physical findings neonates and infants cont
  • Enlarged thyroid
  • Cardiac problems
  • Increased gastrointestinal motility
  • Children and adolescents
  • Warm, moist, smooth skin, diaphoretic skin
  • Eye findings- proptosis, exophthalmos, upper lid
    lag with downward gaze, lid retraction, stare
    appearance, periorbital and conjunctival edema
  • enlarged thyroid, tender or nontender, spongy or
    firm with palpable border may have thyroid bruit
    or thrill
  • Increased pulse rate, systolic hypertension,
    increased pulse pressure

22
Hyperthyroidism
  • Physical findings children- cont
  • Muscle weakness
  • Diminished motor skills, tremor, short DTR
    relaxation phase
  • Advanced skeletal maturation radiographically
  • Diagnostic Tests/Findings
  • If signs or symptoms of throtoxicosis or enlarged
    thyroid, do confirm lab thyroid function tests
  • Thyroiditis indicated by elevated T4, free T4, T3
    resin uptake and low serum cholesterol

23
Hyperthyroidism
  • Tests/findings- cont
  • Circulating thyroid simulator immunoglobulin and
    other thyroid antibody tests including
    thyrotropin receptor antibody titers may be
    positive
  • May have moderate leukopenia, hyperglycemia, and
    glycosuria
  • Graves Disease- low TSH, elevated T4, advanced
    bone age

24
Hyperthyroidism
  • Tests/findings cont
  • radioactive iodine uptake scan shows increased
    uptake if excess TH production. If increased
    released of TH only, will have decreased
    radioactive iodine uptake
  • High T4 not always hyperthyroidism, must also
    have low TSH,with high T4 and/or T3

25
Hyperthyroidism
  • Management/Treatment
  • Physical consultation- pediatric endo
  • Treatment dictated by identified etiology
  • Prompt diagnosis and treatment, especially
    important in neonates as condition may be
    life-threatening.
  • Treatment goal is prompt return euthyroidism

26
Hyperthyroidism
  • Management/treatment cont
  • Restricted physical activities-with severe
    disease or in prep for surgery
  • Educated parent and child about disease
  • Genetic counseling may be indicated

27
Thyroiditis
  • Enlargement of thyroid gland caused by autoimmune
    response to the the thyroid gland
  • Etiology/Incidence
  • Acute suppurative thyroiditis with bacterial
    etiology-e.g. GABHS, pneumococci, S. aureas, and
    anaerobes rare
  • Subactue, nonsuppurative caused by viruses
    e.g.-mumps, influenza,echovirus,coxsackie,
    Epstien-Barr, adenovirus rare in US

28
Thyroiditis
  • Chronic autoimmune lymphocytic- most common cause
    of goiter and hypothyroidism in childhood
  • Signs and Symptoms
  • May have recent family history of concurrent
    upper respiratory illness
  • May have recent family history of autoimmune
    thyroid disease

29
Thyroiditis
  • Signs/Symptoms cont
  • Onset is acute- rapid
  • Fever, malaise-may be very ill
  • Pain and tenderness of thyroid- may radiate to
    ear, chest. Severe pain with neck extension no
    tenderness with chronic lymphocytic thyroiditis
  • Complaints of unilateral or bilateral swelling of
    thyroid, complaints of fullness in anterior neck
    sensation of tracheal compression
  • May have sore throat, hoarseness, dysphasia
  • May have nervousness, irritability

30
Thyroiditis
  • Differential Diagnosis
  • Distinguish between infectious toxic thyroid
    thyroiditis and chronic lymphocytic autoimmune
    thyroiditis
  • Goiters induced by drugs-
  • Cancerous or cystic thyroid nodules

31
Thyroiditis
  • Physical Findings
  • Findings variable depending on etiology
  • May be toxic-appearing if infectious etiology but
    not necessarily thyrotoxic
  • If infectious- thyroid gland unilaterally or
    bilaterally enlarged, tender, firm

32
Thyroiditis
  • Diagnostic Tests/ Findings
  • Laboratory findings variable depending on
    etiology
  • In infectious- serum total T4, free T4, and T3RU
    usually normal or slightly elevated
  • In chronic- elevated TSH and thyroid auto
    antibodies, abnormal thyroid scan
  • Surgical or needle biopsy diagnostic

33
Thyroiditis
  • Management/ Treatment
  • Physical consultation
  • Specific antibiotic therapy
  • Treatment for autoimmune chronic lymphocytic
    thyroid controversial
  • Adolescents need lifelong monitoring
  • Genetic counseling may be indicated

34
Short Stature
  • Variation from average pattern of growth height gt
    2 standard deviations below mean
  • Etiology/Incidence
  • Multiple
  • Normal growth variations
  • Familial or genetic normal variant of average
    growth pattern
  • Constitutional delay of growth

35
Short Stature-Etiologies cont
  • Pathologic growth variations
  • Nutritional
  • Endocrine
  • Hereditary
  • Idiopathic
  • Acquired
  • Other endocrine disturbances
  • Chromosomal disturbance
  • Intrauterine growth retardation
  • Bone development disorders

36
Short Stature
  • Pathologic Etiology cont
  • Metabolic
  • Systemic and chronic diseases and congenital
    defects
  • Associated with birth defects, metal retardation
  • Psychosocial factors e.g. deprivation dwarfism
  • Chronic drug intake
  • Signs and Symptoms
  • Normal growth variation
  • Familial short stature- small at birth
  • Constitutional growth delay- usually normal size
    at birth

37
Short Stature-signs and symptoms cont
  • Pathologic growth variation
  • nutritional
  • History of poor nutritional intake
  • malabsorption
  • Endocrine-growth hormone deficiency 1 in 4000
  • Failure to grow, headaches, delayed dental
    development , developmental delay, dull
    appearance,polyuria,polydipsia
  • Intrauterine growth retardation and low birth
    weight
  • Dysmorphism at birth
  • Signs and symptoms of neglect
  • chronic drug intake

38
Short Stature
  • Differential Diagnosis Distinguish normal
    variants of familial short stature and
    constitutional growth delay from pathologic
    causes

39
Short Stature
  • Physical Findings
  • Familial or constitutional- Height, weight, HC
    growth curve patterns consistent
  • Familial- growth chart showing BW lt 3
  • Constitutional- normal size at birth then
    declining through 1 to 3 years to lt5
  • Pathologic short stature
  • GH deficiency BW may be normal, length 50 of
    normal, height and weight deficits infantile fat
    distribution youthful facial featuresmidface
    hypoplasiavisual field defectssmall hands and
    feetnewborn may have microphallus(stretched
    penile length of lt2.5cm vs. 4cm-normalmay have
    CNS findings

40
Short Stature
  • Physical findings-pathologic-cont
  • Primordial short stature
  • IUGR-subsequent growth lt3rd percentile
  • Primordial dwarfism with premature aging
  • Short stature with and without dysmorphism
  • Short stature associated with chromosomal
    abnormalities-Turners, Downs
  • Short stature associated with bone or cartilage
    development disorder skeletal dysplasia,short
    extremities with normal head and trunk, frontal
    bossing,disproportionate, rickets

41
Short Stature
  • Short stature associated with symptoms of
    endogenous cortisol excessmoonfacies, hirsutism,
    buffalo hump, striae, hypertension,fatigue, deep
    voice,obesity, ammenorhea
  • Chronic drug intake
  • Abnormalities in psychosocial development

42
Short stature
  • Diagnostic Tests/Findings
  • Abnormalities in previous recordings of height,
    weight, and HC
  • Height may be lt 3rd percentile but growth rate
    normal
  • May have abnormal complete and segmental growth
    measurements and upper to lower body ration
    measurements

43
Short Stature
  • Lab test to confirm diagnosis
  • Abnormal CBC-chronic anemia,infection, leukemia
  • Elevated sedimentation rate-vascular
    disease,cancer,chronic infection
  • Abnormal biochemical profiles-adrenal
    insufficiency, renal disease
  • Abnormal stool examination-inflammatory bowel,
    parasitism
  • Abnormal thyroid function studies-hypothyroidism
  • Low serum human growth hormone
  • Abnormal urinalysis-renal disease

44
Short Stature
  • Lab tests to confirm-cont
  • Delayed maturity on radiographic bone age
  • Nutritional evaluation may show inadequate
    calories
  • Abnormal home/social evaluation may suggest
    psychosocial etiology
  • Abnormalities on skull-x-ray, CT,MR-intercranial
    lesions
  • Karyotype analysis in short girls with pubertal
    delay may indicate Turner syndrome

45
Short Stature
  • Management/Treatment
  • Physician consultation - Endo
  • Boys may need short-term testosterone to initiate
    sexual development
  • Optimize treatment for other endocrine of
    systemic or chronic illnesses, adequate calories
  • GH may be indicated for children with know GH
    deficiency-controversial

46
Excessive Growth
  • Variation from average pattern of growth in
    linear height with height gt2 SD above the mean
  • Etiology/Incidence
  • Normal variation in growth- tall structure
  • Pathologic variation in growth
  • Endocrine disorder
  • IDM or GH excess or precocious puberty

47
Excessive Growth
  • Pathologic etiology- cont
  • Genetic causes
  • Marfan syndrome-connective tissue disorder
  • Chromosomal abnormalities- klinefelter syndrome,
    XYY, XXYY
  • Other
  • Idiopathic or exogenous obesity-early puberty
    with accelerated growth-not beyond genetic
    potential
  • Homocystinuria-inherited inborn metabolism error
  • Cerebral gigantism-possible hypothalamic
    dysfunction, adult stature normal to excessive
  • Beckwith-Wiedemann

48
Excessive Growth
  • Signs and Symptoms
  • Concerns primarily with girls/parents
  • Symptoms variable depending on underlying
    etiology
  • Familial or constitutional tall stature-Length
    normal at birth, tall stature evident at 3 to 4
    years-growth rate slows after 4-5 years with
    normal curve
  • IDM-Hx maternal diabetes, LGA
  • Beckwith-Wiedemann-LGA,rapid growth in
    childhoodconcern about heightsymptoms of
    hypoglycemia

49
Excessive Growth
  • Signs and symptoms cont
  • GH excess- headache, visual impairment,coarsening
    of facial features, enlargement of nose and jaw,
    increases in hands and feet, polyuria,
    polydipsia, irregular menses, joint pain
  • Precocious puberty- concern about height,early
    development

50
Excessive Growth
  • Signs and Symptoms cont
  • Klinefelters syndrome
  • Marfans-height, vision,cardiac problems
  • Obesity-normal height and weight at birth
  • Homocystinuria-concern about height, MR,vision,
    CNS sx, back pain
  • Cerebral gigantism-rapid growth,feeding problems
    and developmental delay

51
Excessive Growth
  • Differential Diagnosis- normal variants need to
    be distinguished from pathologic causes
  • Physical Findings
  • Constitutional tall stature- 2 to 4 SD above
    average height for age

52
Excessive Growth
  • Physical findings cont
  • Endocrine disorder
  • IDM- LGA at birth
  • GH excess- tall
  • Precocious puberty- tall
  • Genetic disorders
  • Marfans- tall stature, dolicocephaly,abnormal
    proportions,scoliosis,myopia,heart
    murmur,hypotonicity,pectus excavatum,joint issues
  • Klinefelter syndrome- tall stature,
    underweight,MR,long legs,abnormal proportions,
    normal penis with small testes with decreased
    sensitivity to pressure,cryptorchidism,hypospadias

53
Excessive Growth
  • Physical findings cont
  • Other causes of tall stature
  • Obesity-normal exam
  • Homocystinuria-tall,myopia,CNS sx,convulsion,MR,os
    teoporosis,vertebral collapse
  • Cerebral gigantism-dysmorphic, abnormal
    proportions,MR,macrocephaly,dilichocephaly,
    prominent forehead, hypertelorism with other
    ocular issues,high palate, ppointed chin,CNS
    sx,poor motor coordination
  • Beckwith-Weidemann Syndrome-oomphalocele,
    umbilical hernia, accelerated growth in
    childhood,macroglossia, high palate,midface
    hypoplasia, hemihypertrophy
  • Diagnostic Tests/Findings
  • Recordings of height/weight and OFC on growth
    chart show height gt2 SD above mean for age

54
Excessive Growth
  • Diagnostic Tests/Findings
  • Recordings of height/weight and OFC on growth
    chart show height gt2 SD above mean for age
  • Careful family history of tall growth patterns
    may elucidate familial etiology of tall stature
  • Lab tests to confirm diagnosis bases on clinical
    findings and rule out endocrine disease
  • Radiographic bone age not advance in
    constitutional tall stature

55
Excessive Growth
  • Diagnostic tests/findings cont
  • Abnormal echocardiogram with Marfans
  • Abnormalities on skull radiograph, CT, or MRI of
    cranium
  • Karyotype analysis may indicate chromosomal
    abnormalities

56
Excessive Growth
  • Management/Treatment
  • Physical consultation
  • Pharmacological management controversial
  • Homocystinuria- restrict dietary methionine
  • GH excess from CNS tumor or adrenal or gonadal
    tumor
  • Management of endocrine disease associated with
    tall stature
  • Beckwith-Wiedemann- treat excess insulin
    production

57
Hypoglycemia
  • Symptoms provokes by abnormally low blood glucose
    levers occurring when child with diabetes
    receives excessive insulin, fails to eat, or
    exercises too strenuously in child without
    diabetes, blood glucose lever must be lt40 mg/dL
    and lt30 mg/dL in newborns

58
Hypoglycemia
  • Etiology/Incidence
  • Transient neonatal Hypoglycemia
  • SGA infants with decreased production of blood
    sugar
  • LGA IDM-exposure to maternal blood sugar
  • Increased glucose use-physiologic stressors
    secondary to asphyxia,respiratory illness, heart
    disease,cold injury,starvation
  • Hypoglycemia of childhood
  • Hyperinsulinism
  • Functional fasting Hypoglycemia

59
Hypoglycemia
  • Etiology-hypoglycemia childhood cont
  • Associated with CNS disorders
  • Metabolic disorders and endocrine insufficiency
  • Severe malnutrition states
  • Other-drug ingestion, drug toxicity(alcohol,
    aspirin, oral hypoglycemic agents)
  • Signs and Symptoms
  • Neonatal- findings variable- irritable, jittery,
    refusal to feed, tend to be small for age

60
Hypoglycemia
  • Signs and symptoms-cont
  • Childhood
  • Mood changes, nervousness, weakness, hunger,
    vomiting
  • History-familymay have symptoms of metabolic or
    hormonal disorders
  • Functional fasting-ketotic hypoglycemia-vomiting,a
    norexia,URI,may have early morning seizures
  • Differential Diagnosis
  • Distinguish among various possible etiologies of
    Hypoglycemia-(functional ketotic vs. inherited
    disease)

61
Hypoglycemia
  • Physical findings
  • Neonatal
  • Cachexic or macrosomic infant
  • Irritability, lethargy, weak cry
  • Hypothermia, cyanosis, diaphoresis, pallor
  • Uncoordinated eye movement, eye-rolling
  • Apnea, irregular breathing, tachycardia
  • Twitching, jitteriness,convulsions, semi
    consciousness, coma

62
Hypoglycemia
  • Physical findings cont
  • Childhood
  • Signs same as neonate
  • May have diminished growth, difficulty talking,
    signs of other systemic illness, abdominal or
    pelvic masses, unsteady gait, concurrent illness

63
Hypoglycemia
  • Diagnostic tests/finding
  • Transient neonatal hypoglycemia-routine
    dextrostix if
  • Whole blood glucose level lt35 in first 24 hours
    or lt40 there after or
  • Plasma glucose level lt 40 in first 23 hours or
    lt45 thereafter
  • Low blood glucose during episodeconsistent and
    repeated levels below 40 with associated
    signs-need further workup
  • In hyperinsulinemia, serum insulin levels may be
    inappropriately elevated when compared with
    glucose level obtained at same time

64
Hypoglycemia
  • Management/treatment
  • Consultation with endo
  • Treat hypoglycemic episodes promptly and
    adequately
  • Hypoglycemic reactions in children with diabetes-
  • Surgery for pancreatic adenoma, partial
    pancreatomy if insulin secretion suppression
    unsuccessful
  • Children with function (fasting)
    hypoglycemia-treat with liberal carbohydrate diet
    with bedtime snacks, moderate restriction on
    ketogenic foodsavoid prolonged fastingparents
    may need to check urinary ketones

65
Hyperglycemia-FYI
  • Common hereditary metabolic and endocrine
    disorder characterized by insulin deficiency
    resulting in abnormal metabolism of carbs,
    protein, and fat
  • Always admitted to pediatric hospital with onset-
    to endo services- never treated in primary care!!

66
Disorders of Pubertal Development-FYI
  • Abnormal development- precocious puberty (more
    common in girls)
  • Etiology/Incidence
  • Precocious pubertal development- in boys,
    secondary sexual characteristics before 9 years.
    In girls, onset of breast development before 7-8
    yearssexual pubic hair before 9 years menses
    before age of 9.5 years

67
Disorders of pubertal development
  • Management-FYI
  • Since 90 have true precocious puberty-
  • These patients will be referred to endo-for
    exam,tests,and treatments

68
Gynecomastia
  • Visible glandular enlargement of the male breast
  • Etiology/Incidence
  • Neonatal-due to cross-placental transfer of
    maternal hormones usually resolves by 2 to 3
    weeks
  • Pubertal- too little androgen and/or too much
    estrogen on mammary tissue, may occur in up to
    75 of normal boys

69
Gynecomastia
  • Pathologic- secondary to drug side effects,
    underlying disease
  • Signs and Symptoms
  • Breast development in other then pubertal females
  • Differential diagnosis
  • Obesity
  • Breast infection

70
Gynecomastia
  • Fat necrosis due to injury
  • Drugs
  • Klinefelters
  • Physical Findings
  • Neonatal-usually bilateral, tissue enlargement
  • Pubertal-breast tissue enlargement, movable,
    disk-shaped

71
Gynecomastia
  • Pathologic- malnourishment, lymphadenopathy,
    delayed sexual maturity
  • Diagnostic Tests
  • Endocrinology studies as indicated
  • Imaging techniques as appropriate
  • Karyotyping if Klinefelters suspected

72
Gynecomastia
  • Management
  • Neonatal- Parent education
  • Pubertal- explanation, reassurance and
    observation
  • Physiologic- medical or surgical treatment is
    usually required

73
Amenorrhea
  • Definition-
  • Primary amenorrhea-failure of onset of menarche
    in females who are 16 years and have normal
    pubertal growth and development 14 years with
    absence of normal growth and developmentor in
    girls who not begun menstruation 2 years after
    completed sexual maturation
  • Secondary amenorrhea-absence of menstruation for
    gt 3 cycles at least 6 months after menstruation
    established

74
Amenorrhea
  • Etiology/Incidence
  • Primary
  • Constitutional/familial common
  • Obstruction of flow e.g. fusion or
    stenosis,imperforate hymen
  • Estrogen deficiency
  • Primary ovarian insufficiency-organic or
    functional ovarian failure e.g. anatomic
    anomalies,pelvic irradiation, enzyme
    defects,autoimmune disease,infection
  • Secondary-hypothalamic/pituitary disorders
    e.g.-DM,CF,anorexia,excessive exercise,endocrine
    disease

75
Amenorrhea
  • Etiology-primary-cont
  • Androgen excess e.g.-polycystic ovaries, adrenal
    androgen excess (Cushing's)
  • Ovarian tumors
  • Secondary amenorrheamany causes same as primary
  • Pregnancy-most common
  • Hypothalamic, pituitary and adrenal disorders or
    tumors chromosomal abnormalities
    (Turners)endocrinopathieschronic illness-esp
    with weight loss. Conditions affecting gonadal
    function

76
Amenorrhea
  • Etiology-secondary-cont
  • Pharmacological agents (discontinuance of birth
    control pills, use of tranquilizers)
  • Significant emotional stress or strenuous
    exercise programs-especially with runners, ballet
    dancers,and gymnasts, major weight loss
  • Uterine dysfunction after abortion,infection,c-sec
    tion
  • hysterectomy

77
Amenorrhea
  • Signs and Symptoms
  • Primary-no history of menses in adolescence may
    have symptoms of stress,adrenal dysfunction or
    gonadal disease,pituitary or hypothalamic
    disease,chronic illness including eating
    disorders, chromosomal abnormalities,
    pregnancy,cyclic abdominal pain without
    menstruation in pseudoamenorrhea
  • Secondary-sudden or gradual cessation of
    mensessymptoms vary depending on etiologymay
    exercise excessively

78
Amenorrhea
  • Differentials-
  • Determine if underlying etiology due to chronic
    illness, CNS disease, endocrinopathy
  • Distinguish primary amenorrhea due to
    constitutional or familial etiology, from
    pregnancy
  • Distinguish secondary amenorrhea due to
    pregnancy, underlying disease or disorder
  • Determine amenorrhea vs. pseudoamenorrhea
    (menstruation occurs but obstruction prevents
    release of menstrual blood)

79
Amenorrhea
  • Physical Findings
  • May have normal exam, or signs of chronic
    disease,syndromes, may show signs of pregnancy
  • May lack development of secondary characteristics
    or normal sexual development
  • Pelvic exam may show pregnancy, reproductive
    system abnormalities e.g. cervical atresia,
    imperforate hymen

80
Amenorrhea
  • Diagnostic Tests/Findings
  • Pregnancy test
  • Careful family history to rule out
    constitutional/family delay, then consultation
    with physician and/or referral to specialists as
    needed.

81
Amenorrhea
  • Management and Treatment
  • Constitutional/family primary amenorrhea
    educate,reassurance, monitoring
  • Amenorrhea associated with other etiologies
    requires further evaluation, physician
    consultation or referral to specialist
  • Treatment directed at management or correction of
    underlying cause of abnormal menstrual process
  • Sensitivity to significant concern of delayed
    development by child and familyvery important
  • Parent and child education to cause and treatment
  • Genetic counseling-PRN
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